Genetic, structural, and functional analysis of mutations causing methylmalonyl-CoA epimerase deficiency
K. Heuberger, H. J. Bailey, P. Burda, A. Chaikuad, E. Krysztofinska, T. Suormala, C. Buerer, S. Lutz, B. Fowler, D. S. Froese, W. W. Yue, M. R. Baumgartner
The paper identifies ten new patients with MCEE deficiency, analyzes mutations in the MCEE gene, and reveals structural and functional defects in the enzyme caused by these mutations.
bioRxiv · Nov 30, 2018Biochemistry